Submissions for variant NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)

dbSNP: rs3813227

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437899	SCV000524242	benign	not specified	2016-09-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000437899	SCV000711860	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Arg392Cys in exon 5 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 87.82% (1161/1322) of African chrom osomes by the 1000 Genomes Project (Phase 3; dbSNP rs3813227).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860241	SCV001000223	benign	Alstrom syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000860241	SCV001769051	benign	Alstrom syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328952	SCV002635397	benign	Cardiovascular phenotype	2018-12-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV004708859	SCV005242439	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000860241	SCV001458904	benign	Alstrom syndrome	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000437899	SCV001744753	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000437899	SCV001922664	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000437899	SCV001952443	benign	not specified		no assertion criteria provided	clinical testing